ClinVar Miner

List of variants in gene GLI2 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001374353.1(GLI2):c.148+5T>C rs201273354 0.00053
NM_001374353.1(GLI2):c.1106T>C (p.Val369Ala) rs377454502 0.00021
NM_001374353.1(GLI2):c.2855C>G (p.Ala952Gly) rs1260890491 0.00019
NM_001374353.1(GLI2):c.4094G>A (p.Arg1365His) rs200080112 0.00015
NM_001374353.1(GLI2):c.220C>T (p.His74Tyr) rs201945889 0.00009
NM_001374353.1(GLI2):c.4678G>A (p.Glu1560Lys) rs770936696 0.00009
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00006
NM_001374353.1(GLI2):c.67G>A (p.Ala23Thr) rs201834541 0.00006
NM_001374353.1(GLI2):c.2267G>A (p.Gly756Asp) rs886054812 0.00004
NM_001374353.1(GLI2):c.320C>T (p.Pro107Leu) rs374562179 0.00004
NM_001374353.1(GLI2):c.811G>A (p.Gly271Ser) rs144406619 0.00004
NM_001374353.1(GLI2):c.8C>T (p.Thr3Met) rs770918439 0.00004
NM_001374353.1(GLI2):c.4255G>A (p.Ala1419Thr) rs376388820 0.00002
NM_001374353.1(GLI2):c.1592C>T (p.Ser531Leu) rs1418648944 0.00001
NM_001374353.1(GLI2):c.1942A>G (p.Ser648Gly) rs561810561 0.00001
NM_001374353.1(GLI2):c.2066C>T (p.Thr689Ile) rs754899023 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001374353.1(GLI2):c.2669G>A (p.Gly890Asp) rs1479419735 0.00001
NM_001374353.1(GLI2):c.2690G>A (p.Arg897Gln) rs886054813 0.00001
NM_001374353.1(GLI2):c.1072A>C (p.Ser358Arg)
NM_001374353.1(GLI2):c.1117A>C (p.Lys373Gln)
NM_001374353.1(GLI2):c.1136C>A (p.Thr379Asn)
NM_001374353.1(GLI2):c.1187A>C (p.Gln396Pro)
NM_001374353.1(GLI2):c.1288G>C (p.Glu430Gln)
NM_001374353.1(GLI2):c.142C>T (p.Gln48Ter)
NM_001374353.1(GLI2):c.1466C>T (p.Thr489Met)
NM_001374353.1(GLI2):c.1517A>G (p.His506Arg)
NM_001374353.1(GLI2):c.1597dup (p.Arg533fs) rs1553477189
NM_001374353.1(GLI2):c.160C>G (p.Leu54Val)
NM_001374353.1(GLI2):c.1693C>T (p.Arg565Trp)
NM_001374353.1(GLI2):c.1718del (p.Gly573fs)
NM_001374353.1(GLI2):c.1748G>T (p.Arg583Leu)
NM_001374353.1(GLI2):c.1766G>A (p.Arg589His)
NM_001374353.1(GLI2):c.1975A>T (p.Asn659Tyr)
NM_001374353.1(GLI2):c.2137G>A (p.Glu713Lys)
NM_001374353.1(GLI2):c.2195C>A (p.Pro732Gln)
NM_001374353.1(GLI2):c.2210G>C (p.Arg737Pro) rs144782119
NM_001374353.1(GLI2):c.2278G>A (p.Gly760Ser)
NM_001374353.1(GLI2):c.2380A>G (p.Ser794Gly)
NM_001374353.1(GLI2):c.248T>C (p.Val83Ala)
NM_001374353.1(GLI2):c.2702C>T (p.Ala901Val)
NM_001374353.1(GLI2):c.2723G>A (p.Arg908His)
NM_001374353.1(GLI2):c.2734G>T (p.Ala912Ser)
NM_001374353.1(GLI2):c.2827G>A (p.Glu943Lys)
NM_001374353.1(GLI2):c.283A>G (p.Ile95Val)
NM_001374353.1(GLI2):c.2872C>T (p.Arg958Trp)
NM_001374353.1(GLI2):c.2893C>T (p.Pro965Ser)
NM_001374353.1(GLI2):c.2963G>T (p.Arg988Leu)
NM_001374353.1(GLI2):c.3008C>T (p.Ala1003Val)
NM_001374353.1(GLI2):c.3067G>A (p.Val1023Met)
NM_001374353.1(GLI2):c.3148G>C (p.Val1050Leu)
NM_001374353.1(GLI2):c.3217A>C (p.Ser1073Arg)
NM_001374353.1(GLI2):c.322del (p.Ala108fs) rs1553471273
NM_001374353.1(GLI2):c.3254C>T (p.Pro1085Leu)
NM_001374353.1(GLI2):c.3297C>G (p.Asn1099Lys) rs368638181
NM_001374353.1(GLI2):c.3310G>C (p.Ala1104Pro)
NM_001374353.1(GLI2):c.3416C>T (p.Ala1139Val) rs886054816
NM_001374353.1(GLI2):c.3418C>G (p.Leu1140Val)
NM_001374353.1(GLI2):c.3452_3453del (p.Gln1151fs)
NM_001374353.1(GLI2):c.3503G>A (p.Gly1168Asp)
NM_001374353.1(GLI2):c.355C>A (p.His119Asn)
NM_001374353.1(GLI2):c.3638del (p.Ala1213fs) rs1553479405
NM_001374353.1(GLI2):c.3703C>T (p.Pro1235Ser)
NM_001374353.1(GLI2):c.3769C>T (p.Pro1257Ser)
NM_001374353.1(GLI2):c.3826A>G (p.Thr1276Ala)
NM_001374353.1(GLI2):c.3847A>G (p.Arg1283Gly)
NM_001374353.1(GLI2):c.3967G>C (p.Val1323Leu)
NM_001374353.1(GLI2):c.4028G>C (p.Gly1343Ala)
NM_001374353.1(GLI2):c.4108C>T (p.Arg1370Cys)
NM_001374353.1(GLI2):c.4127T>G (p.Leu1376Arg)
NM_001374353.1(GLI2):c.4183A>G (p.Thr1395Ala)
NM_001374353.1(GLI2):c.4315C>A (p.Gln1439Lys)
NM_001374353.1(GLI2):c.4381G>A (p.Ala1461Thr)
NM_001374353.1(GLI2):c.4476G>T (p.Gln1492His)
NM_001374353.1(GLI2):c.4636A>G (p.Met1546Val)
NM_001374353.1(GLI2):c.4684A>T (p.Ser1562Cys)
NM_001374353.1(GLI2):c.562del (p.Ala188fs) rs869312965
NM_001374353.1(GLI2):c.566C>T (p.Pro189Leu)
NM_001374353.1(GLI2):c.596G>A (p.Gly199Asp)
NM_001374353.1(GLI2):c.605G>C (p.Ser202Thr)
NM_001374353.1(GLI2):c.649C>G (p.Arg217Gly) rs149819397
NM_001374353.1(GLI2):c.739C>T (p.Arg247Trp)
NM_001374353.1(GLI2):c.764C>T (p.Ser255Leu)
NM_001374353.1(GLI2):c.814T>G (p.Ser272Ala)
NM_001374353.1(GLI2):c.817T>G (p.Tyr273Asp)
NM_001374353.1(GLI2):c.838G>A (p.Ala280Thr)
NM_001374353.1(GLI2):c.941C>T (p.Pro314Leu)
NM_001374353.1(GLI2):c.985A>G (p.Met329Val)
NM_001374353.1(GLI2):c.988G>A (p.Ala330Thr)

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